遺伝性混合ポリポーシス症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer)	BMPR1A	Pathogenic	10	88649960	88649975	GATGCTATTAATAACAC	G	criteria provided, single submitter	ClinGen:CA16613195
Duplication	NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs)	BMPR1A	Pathogenic	10	88678975	88678976	C	CTATT	criteria provided, single submitter	ClinGen:CA16613203
Duplication	NM_004329.3(BMPR1A):c.143dup (p.Thr49fs)	BMPR1A	Likely pathogenic	10	88649893	88649894	G	GT	criteria provided, single submitter	ClinGen:CA16618997
Deletion	NM_004329.3(BMPR1A):c.360del (p.Thr121fs)	BMPR1A	Pathogenic	10	88659576	88659576	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619001
Deletion	NM_001406583.1(BMPR1A):c.676-6del	BMPR1A	Likely pathogenic	10	88676890	88676890	AG	A	criteria provided, single submitter	ClinGen:CA16619003
single nucleotide variant	NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)	BMPR1A	Pathogenic	10	88676945	88676945	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619004
Indel	NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs)	BMPR1A	Likely pathogenic	10	88681353	88681354	GA	TTTC	criteria provided, single submitter	ClinGen:CA16619011
single nucleotide variant	NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	BMPR1A	Pathogenic/Likely pathogenic	10	88635776	88635776	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774739
single nucleotide variant	NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg)	BMPR1A	Likely pathogenic	10	88635842	88635842	G	A	criteria provided, single submitter	ClinGen:CA377774875
single nucleotide variant	NM_004329.3(BMPR1A):c.68-1G>C	BMPR1A	Pathogenic	10	88649818	88649818	G	C	criteria provided, single submitter	ClinGen:CA377446197